KEGG   DISEASE: H01106Help
Entry
H01106                      Disease                                

Name
Plasminogen activator inhibitor type 1 (PAI-1) deficiency
Description
Plasminogen activator inhibitor type 1 (PAI-1) deficiency is a disorder resulting in increased fibrinolysis and an associated bleeding diathesis. PAI-1 is an important component of the coagulation system that down-regulates fibrinolysis in the circulation. Affected individuals exhibit mild to moderate bleeding symptoms, including epistaxis, menorrhagia, and delayed bleeding after trauma or surgical procedures. Spontaneous bleeding events are rarely seen in contrast to other procoagulant deficiencies. Generally most of the PAI-1-related diseases are due to elevated antigenic concentrations and their inhibitory activity. However, absence of cellular PAI-1 activity also causes several diseases. Clear documentation of PAI-1 deficiency as a cause of a bleeding disorder has been rare.
Category
Hematologic disease
BRITE hierarchy
Pathway
p53 signaling pathway
Complement and coagulation cascades
Gene
PAI1 [HSA:5054] [KO:K03982]
Drug
Tranexamic acid [DR:D01136]
Epsilon-Aminocaproic acid [DR:D00160]
Other DBs
ICD-10: 
OMIM: 
Reference
PMID:19141166 (description, gene, drug)
  Authors
Mehta R, Shapiro AD
  Title
Plasminogen activator inhibitor type 1 deficiency.
  Journal
Haemophilia 14:1255-60 (2008)
Reference
PMID:21465481 (description, gene)
  Authors
Ghosh AK, Vaughan DE
  Title
PAI-1 in tissue fibrosis.
  Journal
J Cell Physiol 227:493-507 (2012)

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